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Disease Profile

Duane syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Infancy

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ICD-10

H50.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Duane anomaly; Duane retraction syndrome; DRS;

Categories

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary

Duane syndrome affects the ability of the eye to move from side to side. Symptoms include restricted movement of eye outward and/or inward and the eyeball may be pulled back into the socket. In addition, the opening of the eye may be narrow. Some people with Duane syndrome develop "lazy eye" (amblyopia), a condition that may cause vision loss in the affected eye. Duane syndrome usually only occurs in one eye, and is not associated with other signs or symptoms. There are three types of Duane syndrome, which vary by which eye movements are most severely restricted. The exact cause of Duane syndrome is unknown. About 10% of cases are inherited in families in an autosomal dominant pattern. Diagnosis of Duane syndrome is based on the symptoms, an eye exam, and imaging studies. Treatment is focused on managing the symptoms, and includes corrective eye glasses and contact lens, and sometimes surgery.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Duane syndrome. These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of Duane syndrome may include:[1][2] 

  • Two eyes that don't line up in the same direction (strabismus)
  • Limited ability to move the eye from side to side
  • Retracted eyeball (pulled back into the socket)
  • Narrow eye opening (narrow palpebral fissures)
  • Lazy eye (amblyopia)

Duane syndrome is present at birth and infants may have only a limited ability to move the affected eye outward and/or inward. Some people with Duane syndrome are at risk to develop lazy eye and have decreased vision in that eye. People with Duane syndrome may also have unusual head movements. Generally, with treatment, eye movement can be corrected.[2][4] 

Duane syndrome has 3 types which vary depending on which type of eye movement is most restricted. In Duane syndrome type 1, eye movement outward is limited. This is the most common type of Duane syndrome. In Duane syndrome type 2, eye movement inward is limited. In Duane syndrome type 3, both outward and inward eye movement are limited.[1][2]

In about 30% of cases, Duane syndrome occurs with other abnormalities or as part of a genetic syndrome.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Oculomotor nerve palsy
0012246
Short palpebral fissure
Short opening between the eyelids
0012745
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
30%-79% of people have these symptoms
Abnormal vertebral segmentation and fusion
0005640
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Blepharophimosis
Narrow opening between the eyelids
0000581
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Low posterior hairline
Low hairline at back of neck
0002162
Sensorineural hearing impairment
0000407
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Abnormal pupil morphology
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality

[ more ]

0000615
Abnormality of cardiovascular system morphology
0030680
Absent radius
Missing outer large bone of forearm
0003974
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Aniridia
Absent iris
0000526
Anorectal anomaly
0012732
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb

[ more ]

0009601
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid

[ more ]

0000643
Brachydactyly
Short fingers or toes
0001156
Camptodactyly
Permanent flexion of the finger or toe
0012385
Central heterochromia
0007818
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cleft palate
Cleft roof of mouth
0000175
Ectopic kidney
Abnormal kidney location
Displaced kidney

[ more ]

0000086
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
External ear malformation
0008572
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Global developmental delay
0001263
Hypopigmented skin patches
Patchy loss of skin color
0001053
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplastic iris stroma
0007990
Iris coloboma
Cat eye
0000612
Irregular hyperpigmentation
0007400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow internal auditory canal
0011386
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic disc hypoplasia
0007766
Patchy hypopigmentation of hair
0011365
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Preauricular skin tag
0000384
Preaxial hand polydactyly
Extra thumb
0001177
Ptosis
Drooping upper eyelid
0000508
Seizure
0001250
Short neck
Decreased length of neck
0000470
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Spina bifida occulta
0003298
Stenosis of the external auditory canal
Narrowing of passageway from outer ear to middle ear
0000402
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Triphalangeal thumb
Finger-like thumb
0001199
Webbed neck
Neck webbing
0000465
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Cause

Duane syndrome is caused by an abnormality in the early development of the cranial nerve involved in eye movement. The exact cause for this is unknown.[4]

Duane syndrome usually occurs in a family for the first time, without any previous family history. In some cases, Duane syndrome is inherited from an affected parent. In these cases, Duane syndrome may occur when the CHN1, MAFBor SALL4 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1][3]

Duane syndrome associated with MAFB gene variants typically occurs with hearing loss. Duane syndrome associated with SALL4 gene variants typically causes Duane-radial ray syndrome (DRRS), a condition which includes Duane syndrome and upper limb abnormalities.[1][3]

Diagnosis

Duane syndrome is diagnosed based on the symptoms, eye exam, and imaging studies. Genetic testing may be helpful if there are multiple family members with Duane syndrome.[1][3]

Treatment

The treatment of Duane syndrome is focused on managing the symptoms. Options include corrective eye glasses or contacts, and eye surgery. Some of the indications for surgery include abnormal head positioning, an eyeball that is pushed back, or very narrow opening for the eye.[3][4]

Specialists involved in the care of someone with Duane syndrome include:

  • Ophthalmologist
  • Ophthalmic surgeon
  • Medical geneticist

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Duane syndrome in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Duane syndrome. Click on the link to view a sample search on this topic.

References

  1. Barry BJ, Whitman MC, Hunter DG, Engle EC. Duane Syndrome. GeneReviews. Updated Aug 29, 2019; https://pubmed.ncbi.nlm.nih.gov/20301369/.
  2. Kekunnaya R, Negalur M. Duane retraction syndrome: causes, effects and management strategies. Clin Ophthalmol. Oct 30, 2017; 11:1917-1930. https://pubmed.ncbi.nlm.nih.gov/29133973/.
  3. Gunduz A, Ozsoy E, Ulucan PB. Duane Retraction Syndrome: Clinical Features and a Case Group-Specific Surgical Approach. Semin Ophthalmol. 2019; 34(1):52-58. https://pubmed.ncbi.nlm.nih.gov/30516080/.
  4. Gaur N, Sharma P. Management of Duane retraction syndrome: A simplified approach. Indian J Ophthalmol. 2019 Jan;67(1):16-22.. Jan 2019; 67(1):16-22. https://pubmed.ncbi.nlm.nih.gov/30574884/.

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